Indian policy on rare diseases unveiled: Is this the end of patients’ woes?

The government’s approval of the country’s first National Policy for Treatment of Rare Diseases has set India’s healthcare development in motion. The impending policy draws on global standards and aims to improve medical facilities and treatment of rare diseases. The high mortality rate in India, along with inadequate awareness and unaffordable treatment of such diseases, has made this policy a necessity.

What are rare diseases?

According to the Organisation for Rare Diseases India (ORD), “inherited cancers, autoimmune disorders, congenital malformations, and infectious diseases”, amongst others, constitute rare diseases. It refers to an illness with a low prevalence among the population. A majority of these are chronic, fatal and may cause handicaps.

The ORD states that there is no universally applicable definition. While WHO suggests a frequency of less than 6.5-10 cases per 10,000 people, definitions vary based on a country’s distinct population and healthcare system.

Indian policy on rare diseases

The decision to implement the policy was preceded by a directive issued by the Delhi High Court (HC) to the Ministry of Health and Family Welfare.

In the case, many patients petitioned for aid in bearing high costs of treatment. Lawyers and organisations representing the patients appealed to the government and the Health Ministry to draft a cohesive policy for treatment of rare diseases. Keeping in mind the constitutional right to affordable and quality healthcare, the Delhi HC, on 3rd November 2016, gave the government a deadline of six months to draft this policy.

The Ministry submitted an affidavit along with the final policy on 25th May 2017 to the Delhi HC. The country now awaits 4th August 2017 as, on this day, the Ministry is set to unveil the method of implementation of the policy.

Why does India need this policy?

Though these diseases are rare, keeping in mind India’s large population, the number of patients is substantial. 1 in every 20 Indians is afflicted with a rare disease. 50% of the patients are children. According to experts, ineffective treatment or untimely diagnosis leads to the death of 70% of them between the ages of 1 to 7.

India lacks a clear definition of rare diseases. In the absence of such vital information, the country has no statistical data on said disorders. Medical professionals are deficient in knowledge of rare diseases, while treatments are extremely expensive.

80% of rare diseases are genetic in nature. This field of science is still developing and requires a variety of tests before the diagnosis can be confirmed. Due to the involvement of multiple organs in such diseases, diagnosis is difficult. “For many rare diseases, no diagnostic method exists. Lack of data on burden, morbidity and mortality of rare diseases prevents the timely diagnosis and estimation of the treatment costs,” said Manjit Singh, President of Lysosomal Storage Disorders Support Society (LSDSS).

While many cannot afford treatment, the unavailability of drugs for curing rare diseases is another issue. The ORD reports state that there are over 7000 rare diseases, with many still being discovered. Only 500 of them have Food and Drug Administration (FDA) approved drugs for treatment. Due to the infrequency of the illnesses, pharmaceutical companies often do not produce the drugs required as it proves to be unprofitable. As such, many patients resort to the treatment of symptoms caused due to the disease, rather than curing the disease itself.

Understanding the policy’s objectives

The primary provisions of the policy include setting up a corpus fund for rare diseases. This will involve an initial funding of Rs 100 crores by the Centre for curing genetic disorders while leaving out blood-related disorders.

While health is a state subject, there is a definite need for a national policy on rare diseases. States must also enact their own policies for the afflicted, wherein the national policy provisions can supplement individual initiatives in different regions.

The national policy further acknowledges the need to sustain the created corpus. As such, the policy urges Public Sector Units and the corporate sector to contribute to the corpus as a part of their Corporate Social Responsibility (CSR) activities.

To address the lack of data on rare diseases, the Indian Council of Medical Research has commenced patient registrations. This will help gather statistics on the prevalence of rare diseases in India and enable the derivation of a country-specific definition.

At present, rare diseases with their exorbitantly priced medical treatments are not covered by any insurance company. To remedy this situation, the policy directs Department of Financial Services to direct the insurance sector to cover the costs of rare diseases. Patients below the poverty line are to receive free treatment for rare diseases.

Implementing the policy: Challenges and suggestions

While the policy is a laudable effort by the Centre, its implementation will need to be efficient to really benefit the patients.

Though insurance companies have been directed to cover rare diseases, Prasanna Shirol, founder director of ORD India expressed concern over delays. “The policy has put insurance under its ‘long-term’ goal. Only when the policy is gazetted, would insurance companies start covering the costs,” he stated.

The treatment of rare diseases is extensive and specific. Putting policy provisions in motion will require time and dedication. Any delays in diagnosis or treatments will eventually cause more suffering to the patients.

The main challenge that the government faces is the simplification of the implementation process to benefit patients. There is a need to streamline the implementation and propose measures to be adopted in the meantime. Access to medical facilities must be designed to be “patient-friendly” keeping the best interests of the afflicted at heart.